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    CABLES1 Cdk5 and Abl enzyme substrate 1 [ Homo sapiens (human) ]

    Gene ID: 91768, updated on 2-May-2024

    Summary

    Official Symbol
    CABLES1provided by HGNC
    Official Full Name
    Cdk5 and Abl enzyme substrate 1provided by HGNC
    Primary source
    HGNC:HGNC:25097
    See related
    Ensembl:ENSG00000134508 MIM:609194; AllianceGenome:HGNC:25097
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CABL1; IK3-1; CABLES; HsT2563
    Summary
    This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
    Expression
    Broad expression in lung (RPKM 9.3), fat (RPKM 7.7) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CABLES1 in Genome Data Viewer
    Location:
    18q11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (23134564..23260470)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (23327896..23454570)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (20714528..20840434)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RB binding protein 8, endonuclease Neighboring gene RNA, 7SL, cytoplasmic 745, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20664224-20664724 Neighboring gene Sharpr-MPRA regulatory region 2761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20685239-20685740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20685741-20686240 Neighboring gene uncharacterized LOC124904266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20701091-20701590 Neighboring gene NANOG hESC enhancer GRCh37_chr18:20702454-20703005 Neighboring gene Sharpr-MPRA regulatory region 2996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20738534-20739053 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20749225-20750158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9355 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20762837-20763336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20768869-20769375 Neighboring gene MPRA-validated peak3070 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20776067-20776663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13149 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:20829775-20830276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20839263-20839926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20862678-20863368 Neighboring gene transmembrane protein 241 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20864751-20865440 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20864059-20864750 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20869474-20870086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20870087-20870699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20882361-20883251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20887449-20887950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20887951-20888450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20910236-20910904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13153 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:20956411-20956910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13154 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:20963589-20963764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21033050-21033550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13162 Neighboring gene NANOG hESC enhancer GRCh37_chr18:21085432-21085935 Neighboring gene RIO kinase 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:21098843-21100042 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:21109032-21110231 Neighboring gene regulator of MON1-CCZ1 Neighboring gene NPC intracellular cholesterol transporter 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    EBI GWAS Catalog
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    EBI GWAS Catalog
    Genome-wide and candidate gene association study of cigarette smoking behaviors.
    EBI GWAS Catalog
    Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
    EBI GWAS Catalog
    Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CABLES1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of Cdk5 and Abl enzyme substrate 1 (CABLES1) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ35924

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    CDK5 and ABL1 enzyme substrate 1
    Names
    interactor with CDK3 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001100619.3NP_001094089.1  CDK5 and ABL1 enzyme substrate 1 isoform 2

      See identical proteins and their annotated locations for NP_001094089.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon that contains the translation initiation site, resulting in an isoform (2) with a distinct N-terminus.
      Source sequence(s)
      AC011731, AC105247
      Consensus CDS
      CCDS42417.1
      UniProtKB/Swiss-Prot
      B4DK60, Q8N3Y8, Q8NA22, Q8TDN4, Q9BTG1
      UniProtKB/TrEMBL
      A7K6Y5
      Related
      ENSP00000256925.7, ENST00000256925.12
      Conserved Domains (1) summary
      cd20602
      Location:502633
      CYCLIN_CABLES1; cyclin box found in CDK5 and ABL1 enzyme substrate 1 (CABLES1)
    2. NM_001256438.1NP_001243367.1  CDK5 and ABL1 enzyme substrate 1 isoform 3

      See identical proteins and their annotated locations for NP_001243367.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and use an alternate start codon compared to variant 1. The resulting protein (isoform 3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC011731, AC105247, AK296407
      Consensus CDS
      CCDS58615.1
      UniProtKB/Swiss-Prot
      Q8TDN4
      Related
      ENSP00000383321.2, ENST00000400473.6
      Conserved Domains (1) summary
      cd00043
      Location:189274
      CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...
    3. NM_138375.3NP_612384.1  CDK5 and ABL1 enzyme substrate 1 isoform 1

      See identical proteins and their annotated locations for NP_612384.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate first exon that contains the translation initiation site, resulting in an isoform (1) with a distinct N-terminus.
      Source sequence(s)
      AK025627, BC004124, BC015686, BC037218
      Consensus CDS
      CCDS42418.1
      Related
      ENSP00000413851.2, ENST00000420687.2
      Conserved Domains (1) summary
      cd00043
      Location:251336
      CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

    RNA

    1. NR_023359.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate first exon and lacks three consecutive exons in the coding region, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AK025627, AK093243, BC015686, BC037218

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      23134564..23260470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      23327896..23454570
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)